ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1271G>A (p.Arg424Gln)

gnomAD frequency: 0.00001  dbSNP: rs748252959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952874 SCV002221805 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2021-01-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with HMGCS2-related conditions. This variant is present in population databases (no rsID available, ExAC 0.006%). This sequence change replaces arginine with glutamine at codon 424 of the HMGCS2 protein (p.Arg424Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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